Search Results - "Lecce, Rosetta"

Mapping the Wolf-Hirschhorn Syndrome Phenotype Outside the Currently Accepted WHS Critical Region and Defining a New Critical Region, WHSCR-2 by Zollino, Marcella, Lecce, Rosetta, Fischetto, Rita, Murdolo, Marina, Faravelli, Francesca, Selicorni, Angelo, Buttè, Cinzia, Memo, Luigi, Capovilla, Giuseppe, Neri, Giovanni

“…In an attempt to define the distinctive Wolf-Hirschhorn syndrome (WHS) phenotype, and to map its specific clinical manifestations, a total of eight patients…”
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A case of 45,X male: genetic reevaluation and hormonal and metabolic follow-up in adult age by Mancini, Antonio, M.D, Zollino, Marcella, M.D, Leone, Erika, M.D, Grande, Giuseppe, M.D, Festa, Roberto, M.D, Lecce, Rosetta, B.D, Pontecorvi, Alfredo, M.D, Neri, Giovanni, M.D

“…Objective To report a case of a 45,X man, a rare condition with a clinical course that has not been dealt with by any previous article in the literature…”
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The Pitt-Hopkins syndrome: Report of 16 new patients and clinical diagnostic criteria by Marangi, Giuseppe, Ricciardi, Stefania, Orteschi, Daniela, Lattante, Serena, Murdolo, Marina, Dallapiccola, Bruno, Biscione, Chiara, Lecce, Rosetta, Chiurazzi, Pietro, Romano, Corrado, Greco, Donatella, Pettinato, Rosa, Sorge, Giovanni, Pantaleoni, Chiara, Alfei, Enrico, Toldo, Irene, Magnani, Cinzia, Bonanni, Paolo, Martinez, Federica, Serra, Gigliola, Battaglia, Domenica, Lettori, Donatella, Vasco, Gessica, Baroncini, Anna, Daolio, Cecilia, Zollino, Marcella

“…Pitt‐Hopkins syndrome (PTHS) is characterized by severe intellectual disability, typical facial gestalt and additional features, such as breathing anomalies…”
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Duplication of the Rubinstein–Taybi region on 16p13.3 is associated with a distinctive phenotype by Marangi, Giuseppe, Leuzzi, Vincenzo, Orteschi, Daniela, Grimaldi, Maria E., Lecce, Rosetta, Neri, Giovanni, Zollino, Marcella

“…We report on a 16‐year‐old girl with a multiple congenital anomalies/mental retardation condition, in which a 1.7 Mb tandem duplication of chromosome region…”
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Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16 by Zollino, Marcella, Lecce, Rosetta, Murdolo, Marina, Orteschi, Daniela, Marangi, Giuseppe, Selicorni, Angelo, Midro, Alina, Sorge, Giovanni, Zampino, Giuseppe, Memo, Luigi, Battaglia, Domenica, Petersen, Michael, Pandelia, Effie, Gyftodimou, Yolanda, Faravelli, Francesca, Tenconi, Romano, Garavelli, Livia, Mazzanti, Laura, Fischetto, Rita, Cavalli, Pietro, Savasta, Salvatore, Rodriguez, Laura, Neri, Giovanni

“…The basic genomic defect in Wolf-Hirschhorn syndrome (WHS), including isolated 4p deletions and various unbalanced de novo 4p;autosomal translocations and…”
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The euchromatic 9p+ polymorphism is a locus-specific amplification caused by repeated copies of a small DNA segment mapping within 9p12 by LECCE, Rosetta, MURDOLO, Marina, GELLI, Gianfranco, STEINDL, Katharina, COPPOLA, Livia, ROMANO, Anna, CUPELLI, Elisa, NERI, Giovanni, ZOLLINO, Marcella

“…A large duplication involving the proximal euchromatic region of chromosome 9p was detected by conventional cytogenetics in a healthy 33-year-old woman and in…”
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A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome by ZOLLINO, Marcella, LECCE, Rosetta, OPITZ, John M, NERI, Giovanni, SELICORNI, Angelo, MURDOLO, Marina, MANCUSO, Irene, MARANGI, Giuseppe, ZAMPINO, Giuseppe, GARAVELLI, Livia, FERRARINI, Alessandra, ROCCHI, Mariano

“…A total of five Wolf-Hirschhorn syndrome (WHS) patient with a 4p16.3 de novo microdeletion was referred because of genotype-phenotype inconsistencies, first…”
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Wolf–Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16 by Zollino, Marcella, Lecce, Rosetta, Murdolo, Marina, Orteschi, Daniela, Marangi, Giuseppe, Selicorni, Angelo, Midro, Alina, Sorge, Giovanni, Zampino, Giuseppe, Memo, Luigi, Battaglia, Domenica, Petersen, Michael, Pandelia, Effie, Gyftodimou, Yolanda, Faravelli, Francesca, Tenconi, Romano, Garavelli, Livia, Mazzanti, Laura, Fischetto, Rita, Cavalli, Pietro, Savasta, Salvatore, Rodriguez, Laura, Neri, Giovanni

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Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4pl6 by ZOLLINO, Marcella, LECCE, Rosetta, BATTAGLIA, Domenica, PETERSEN, Michael, PANDELIA, Effie, GYFTODIMOU, Yolanda, FARAVELLI, Francesca, TENCONI, Romano, GARAVELLI, Livia, MAZZANTI, Laura, FISCHETTO, Rita, CAVALLI, Pietro, MURDOLO, Marina, SAVASTA, Salvatore, RODRIGUEZ, Laura, NERI, Giovanni, ORTESCHI, Daniela, MARANGI, Giuseppe, SELICORNI, Angelo, MIDRO, Alina, SORGE, Giovanni, ZAMPINO, Giuseppe, MEMO, Luigi

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Two brothers with 22q13 deletion syndrome and features suggestive of the Clark–Baraitser syndrome by Tabolacci, Elisabetta, Zollino, Marcella, Lecce, Rosetta, Sangiorgi, Eugenio, Gurrieri, Fiorella, Leuzzi, Vincenzo, Opitz, John M., Neri, Giovanni

“…We report on two brothers with moderate-to-severe mental retardation, severe macrocephaly, obesity, characteristic face, big hands and feet, advanced bone age…”
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Duplication of the Rubinstein-Taybi region on 16p13.3 is associated with a distinctive phenotype by Marangi, Giuseppe, Leuzzi, Vincenzo, Orteschi, Daniela, Grimaldi, Maria E., Lecce, Rosetta, Neri, Giovanni, Zollino, Marcella

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